Atypical Bourneville sclerosis without epilepsy and mental retardation: case report and literature review.
نویسندگان
چکیده
Twenty-four-year-old woman without familiar detected signs of Bourneville's disease or tuberous sclerosis complex (TSC) was diagnosed with this disease by casual discovery on cerebral magnetic resonance imaging (MRI) of an intraventricular tumor, after symptoms consist in headache, equilibrium disturbances, and progressive loss of vision. MRI shows an intracranial mass, 33÷24÷30 mm in size, localized at the level of third ventricle and lateral ventricles, with irregular shape, interesting the foramen of Monroe. There are also nodular areas of calcification and a supratentorial hydrocephalus involving the lateral ventricles and the posterior part of the third ventricle. The patients present facial angiofibromas, but from the classical triad of the disease, the epilepsy and mental retardation were absent, the patient never presented seizures. The total removal of the tumor (peace to peace) was performed surgically, the macroscopic features of resected tumor (20/10/10 mm) was of white-gray color, elastic consistency, localized in the both lateral ventricles (left>right) and into the third ventricle, traversing the foramen Monroe. The histopatological examination associated with specific localization of tumor and the facial angiofibromas are very suggestive for subependimar giant cell astrocytoma (SEGA). We have a rare case of atypical or incomplete TSC in which the epileptic seizures and the mental retardation are absent, the intelligence is normal, but occur some psychical symptoms: anxiety, sleeplessness, and autism or behavior disturbances. The evolution of this case was marked by complications because of postoperative hydrocephalus and multiple shunt insertions and revisions were performed after the tumor resection.
منابع مشابه
The abortive form of Bourneville-Pringle syndrome.
BACKGROUND/METHODS To present a 26-year-old woman affected by the abortive form of Bourneville-Pringle syndrome. To our knowledge, this disease is unusual since only very few cases have been reported in the scientific literature at this time. RESULTS/CONCLUSIONS Visual acuity was 20/20 in both eyes. No relevant ocular abnormalities were observed excepting two retinal hamartomas, a smaller one...
متن کاملTuberous Sclerosis: A Review of 18 Cases
Tuberous sclerosis (TS) is an ectodermatosis of neurogenetic origin with variable neurological, cutaneous and visceral manifestations. TS is due to the development of benign tumors of the hamartomatous type. First described by Bourneville in 1880, the classic triad characterizing the TS was described by Vogt in 1908 including epilepsy, mental retardation and sebaceous adenomas. The prevalence i...
متن کاملTuberous sclerosis: evaluation of intracranial lesions
The objective of this pictorial essay is to describe and provide examples of intracranial imaging findings of tuberous sclerosis (TS) extracted from our case series. Tuberous sclerosis is a neurocutaneous syndrome formerly described by Bourneville in 18801 (also known as Bourneville disease). This entity is an inherited autosomal dominant disease caused by mutation or deletion of two genes: one...
متن کاملMisdiagnosis of tuberous sclerosis in a Nigerian girl: a case report and review of literature.
Tuberous sclerosis is a rare neuro-cutaneous syndrome, one of the phakomatosis, characterized by facial angiofibromas (adenoma sebaceum), mental retardation and epilepsy. This classic triad occurs in less than one half of patients, probably in one-third, thus requiring a high index of suspicion to diagnose. Consequently it may easily be misdiagnosed as neurofibromatosis or other medical conditi...
متن کاملThe Association Between Ginseng and Mania: A Case Report and Literature Review
Background: Ginseng has long been used as a tonic and panacea, a dietary supplement, or a therapeutic agent in different countries. Among many common side effects for this herbal, the affective disorder is one of the rare ones. Case presentation and Intervention: We present a case of mania with psychotic features. The patient was an 18-year-old male who consumed Asian red ginseng for five mont...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
دوره 55 2 شماره
صفحات -
تاریخ انتشار 2014